Canonical Allele Identifier: CA2335095572

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586141G= , CM000681.2:g.38586141G=	GRCh38
NC_000019.9:g.39076781G= , CM000681.1:g.39076781G=	GRCh37
NC_000019.8:g.43768621G=	NCBI36
NG_008866.1:g.157442G= , LRG_766:g.157442G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1855G=
ENST00000688602.1:c.3252G=
ENST00000689936.1:c.3224G=
ENST00000692547.1:n.312G=
ENST00000359596.8:c.14919G= MANE Select	ENSP00000352608.2:p.Pro4973=
ENST00000355481.8:c.14904G=	ENSP00000347667.3:p.Pro4968=
ENST00000359596.7:c.14919G=	ENSP00000352608.2:p.Pro4973=
ENST00000360985.7:c.14901G=	ENSP00000354254.4:p.Pro4967=
NM_000540.2:c.14919G= , LRG_766t1:c.14919G=	NP_000531.2:p.Pro4973=
NM_001042723.1:c.14904G=	NP_001036188.1:p.Pro4968=
XM_006723317.1:c.14901G=	XP_006723380.1:p.Pro4967=
XM_006723319.1:c.14886G=	XP_006723382.1:p.Pro4962=
XM_011527204.1:c.14916G=	XP_011525506.1:p.Pro4972=
XM_011527205.1:c.14832G=	XP_011525507.1:p.Pro4944=
XM_006723317.2:c.14901G=	XP_006723380.1:p.Pro4967=
XM_006723319.2:c.14886G=	XP_006723382.1:p.Pro4962=
XM_011527205.2:c.14832G=	XP_011525507.1:p.Pro4944=
NM_000540.3:c.14919G= MANE Select	NP_000531.2:p.Pro4973=
NM_001042723.2:c.14904G=	NP_001036188.1:p.Pro4968=